piebaldism

info · Skin · ICD-10: E70.39

An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12.

Signs and symptoms

Heterochromia iridis
Neoplasm
White forelock
Aganglionic megacolon
Partial albinism
Absent pigmentation of the ventral chest
Piebald skin depigmentation
Abnormality of the ear

Also known as: PIEBALD TRAIT; Partial albinism